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In many countries worldwide, predictive genetic testing is only available to those 18 years and older. However, some argue that testing may be beneficial for young people and should be considered earlier. A qualitative study by Murdoch Children’s Research Institute aimed to explore the experience of predictive genetic testing for HD from the point of view of eight young people within the age range of 17 to 25 in Australia and documents the impact of the testing on the young people’s lives. Four were female and two young people received a genetic positive test result.

Methods:

All interviews were conducted at either the hospital or at the participants’ homes. The interviews were recorded, transcribed word-by-word and analyzed using a qualitative research software package called NVIVO. Initial analysis is based on the benefits and harms of the testing. Conceptual analysis then produced categories to enhance the first round of analysis.

Findings:

There are three themes related to the time before the test was performed: “Living as though gene-positive,” “Risk behaviors,” and “Complex pasts.” All young participants knew that objectively there is a 50 percent chance of inheriting HD, yet many held a belief that their test result would turn out to be gene-positive. Most of the at-risk participants engaged in risky behaviors such as drug use, trouble with the police or difficulty at school. Young participants are also frustrated about growing up with misinformation about HD, coping with sick family members and not being able to undergo predictive testing.

Two themes emerged related to the time after testing: “Living again” and “Identity difficulties.” Some young participants claimed that the genetic test enabled them to move forward, make behavioral changes and being enjoying life more. Some young participants who tested negative and don’t inherit the disease had difficulty adjusting to this knowledge because they are not used the identity without HD.

Conclusion:

In current debates about genetic testing, the focus has primarily been the effect after the testing has occurred. However, this study suggests the importance of the time before and after the testing. The theme of “risk behaviors” is perhaps the most notable of all the themes that emerged, as this is the least well documented in past studies. Although the study didn’t suggest a definitive casual link between the risk behaviors and the risk of HD for young participants, it is noteworthy that participants specifically referred to their risk status, or their desire to be tested, as a cause for their risky behaviors. For some, the testing removes the uncertainty of their genetic status, which is barrier in their lives and prevented them from moving forward. The theme of “living again” represents an additional focus for future research. None of the young participants, even those tested positive, regretted undergoing predictive testing. Therefore, predictive genetic testing may not only have the potential to create harms and benefits for young people at risk of HD, but may have the potential to alleviate other forms of harm in their lives.

HOPES is a team of faculty and undergraduate students at Stanford University dedicated to making scientific information about Huntington’s disease (HD) more readily accessible to the public